Acromicric Dysplasia

Description

Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.

Clinical Features

Top most frequent phenotypes and symptoms related to Acromicric Dysplasia

  • Short stature
  • Growth delay
  • Abnormal facial shape
  • Brachydactyly
  • Anteverted nares
  • Short nose
  • Long philtrum
  • Delayed skeletal maturation
  • Severe short stature
  • Narrow mouth

And another 27 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Acromicric Dysplasia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Platyspondyly with amelogenesis imperfecta (sequence analysis of LTBP3 gene).

By CGC Genetics (Portugal).

LTBP3
Specificity
100 %
Genes
25 %
Platyspondyly with amelogenesis imperfecta (sequence analysis of LTBP3 gene).

By CGC Genetics (Portugal).

LTBP3
Specificity
100 %
Genes
25 %
Amelogenesis Imperfecta Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CNNM4, SLC24A4, SMOC2, FAM20A, FAM83H, ODAPH, WDR72, DLX3, ROGDI, ENAM, GPR68, AMELX, ITGB6, KLK4, LAMA3, LAMB3, LTBP3, MMP20
Specificity
6 %
Genes
25 %
Dental Anomalies and Amelogenesis Imperfecta via LTBP3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

LTBP3
Specificity
100 %
Genes
25 %
Tooth Agenesis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

WNT10A, EDARADD, EDAR, EDA, LTBP3, MSX1, PAX9, AXIN2
Specificity
13 %
Genes
25 %
Oligodontia - Selective tooth agenesis Comprehensive panel.

By Connective Tissue Gene Tests (United States).

WNT10B, WNT10A, EDA, LRP6, LTBP3, MSX1, PAX9, AXIN2, PTH1R
Specificity
12 %
Genes
25 %
Oligodontia - Selective tooth agenesis NGS panel.

By Connective Tissue Gene Tests (United States).

WNT10B, WNT10A, EDA, LRP6, LTBP3, MSX1, PAX9, AXIN2, PTH1R
Specificity
12 %
Genes
25 %
Oligodontia - Selective tooth agenesis Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

WNT10B, WNT10A, EDA, LRP6, LTBP3, MSX1, PAX9, AXIN2, PTH1R
Specificity
12 %
Genes
25 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3 HETEROTAXY, VISCERAL, 4, AUTOSOMAL; HTX4 CRANIOECTODERMAL DYSPLASIA 2; CED2 ATRIAL FIBRILLATION, FAMILIAL, 6; ATFB6

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